Varaico: Literature-Extracted Genetic Variants

MCM9

129 papers

RefSeq Summary

The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to ...

Pfam Domains

MCM9_Naa 3–104UCSCMCM9, N-terminal domain

MCM_OBaa 114–247UCSCMCM OB domain

MCMaa 294–509UCSCMCM P-loop domain

MCM_lidaa 522–604UCSCMCM AAA-lid domain

Gene Aliases

HGNC Name

minichromosome maintenance 9 homologous recombination repair factor

HGNC Previous Symbols

MCMDC1; C6orf61

Papers

RefSeq ID

Protein change

DNA change

1–12 of 268 variants

16 papers

NM_017696.3

p.R132*

c.394C>T

15 papers

NM_017696.3

p.A578Splc

c.1732+2T>C

12 papers

NM_017696.3

p.E495*

c.1483G>T

11 papers

NM_017696.3

p.N304S

c.911A>G

8 papers

NM_017696.3

p.Q658H

c.1974G>C

7 papers

NM_017696.3

p.L475F

c.1423C>T

7 papers

NM_017696.3

p.Q658H

c.1974G>T

6 papers

NM_017696.3

p.L224_E225Fs

c.672_673delinsCFs

6 papers

NM_017696.3

p.E225fs

c.673_674fs

6 papers

NM_017696.3

p.M1096V

c.3286A>G

5 papers

NM_017696.3

p.V229G

c.686T>G

5 papers

NM_017696.3

p.Q434P

c.1301A>C